Canonical Allele Identifier: CA4450603
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs754221223

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117480129T>C , CM000669.2:g.117480129T>C GRCh38
NC_000007.13:g.117120183T>C , CM000669.1:g.117120183T>C GRCh37
NC_000007.12:g.116907419T>C NCBI36
NG_016465.4:g.19346T>C , LRG_663:g.19346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.35T>C ENSP00000497673.2:p.Val12Ala
ENST00000647978.2:c.35T>C ENSP00000497658.1:p.Val12Ala
ENST00000649781.2:c.35T>C ENSP00000497203.1:p.Val12Ala
ENST00000649850.2:c.35T>C ENSP00000514457.1:p.Val12Ala
ENST00000685018.2:c.35T>C ENSP00000510194.2:p.Val12Ala
ENST00000687278.2:c.35T>C ENSP00000509593.2:p.Val12Ala
ENST00000692802.2:n.119T>C
ENST00000693465.2:n.120T>C
ENST00000693480.2:n.119T>C
ENST00000699585.1:c.35T>C ENSP00000514456.1:p.Val12Ala
ENST00000699596.1:c.35T>C ENSP00000514465.1:p.Val12Ala
ENST00000699597.1:c.35T>C ENSP00000514466.1:p.Val12Ala
ENST00000699598.1:c.35T>C ENSP00000514467.1:p.Val12Ala
ENST00000699599.1:c.35T>C ENSP00000514468.1:p.Val12Ala
ENST00000699600.1:c.35T>C ENSP00000514469.1:p.Val12Ala
ENST00000699601.1:c.35T>C ENSP00000514470.1:p.Val12Ala
ENST00000699602.1:c.35T>C ENSP00000514471.1:p.Val12Ala
ENST00000699603.1:n.119T>C
ENST00000699604.1:c.35T>C ENSP00000514472.1:p.Val12Ala
ENST00000699605.1:c.-318T>C ENSP00000514473.1:n.-318T>C
ENST00000446805.2:c.-191+435T>C ENSP00000417012.1:n.-191+435T>C
ENST00000692802.1:n.105T>C
ENST00000693465.1:n.105T>C
ENST00000693480.1:n.105T>C
ENST00000003084.11:c.35T>C MANE Select ENSP00000003084.6:p.Val12Ala
ENST00000647639.1:n.119T>C
ENST00000647978.1:c.35T>C ENSP00000497658.1:p.Val12Ala
ENST00000648260.1:c.35T>C ENSP00000497957.1:p.Val12Ala
ENST00000649406.1:c.35T>C ENSP00000497965.1:p.Val12Ala
ENST00000649781.1:c.35T>C ENSP00000497203.1:p.Val12Ala
ENST00000649850.1:n.118T>C
ENST00000673785.1:c.-406+14298T>C ENSP00000501235.1:n.-406+14298T>C
ENST00000003084.10:c.35T>C ENSP00000003084.6:p.Val12Ala
ENST00000426809.5:c.35T>C ENSP00000389119.1:p.Val12Ala
ENST00000446805.1:c.-191+435T>C ENSP00000417012.1:n.-191+435T>C
ENST00000546407.1:n.166+4321T>C
NM_000492.3:c.35T>C , LRG_663t1:c.35T>C NP_000483.3:p.Val12Ala
XM_011515751.1:c.143+784T>C XP_011514053.1:n.143+784T>C
XM_011515752.1:c.143+784T>C XP_011514054.1:n.143+784T>C
XM_011515753.1:c.-191+435T>C XP_011514055.1:n.-191+435T>C
XM_011515754.1:c.-518-19T>C XP_011514056.1:n.-518-19T>C
NM_000492.4:c.35T>C MANE Select NP_000483.3:p.Val12Ala